Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies

Nicola Persico, Simona Boito, Paolo Volpe, Benedetta Ischia, Mattia Gentile, Luisa Ronzoni, Valentina De Robertis, Isabella Fabietti, Claudiana Olivieri, Enrico Periti, Romina Ficarella, Rosamaria Silipigni, Georgios Rembouskos

Research output: Contribution to journalArticle

Abstract

Objective: To examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cfDNA test for common trisomies. Methods: In 486 singleton pregnancies undergoing invasive testing after combined screening, a detailed first trimester ultrasound assessment was carried out and a maternal blood sample was sent for cfDNA analysis. Ultrasound and cfDNA data were analyzed in relation to fetal karyotype. Results: Invasive testing demonstrated a chromosomal abnormality in 157 (32.3%) of 486 fetuses. In 348 cases with a low-risk cfDNA test for common trisomies, NT ≥ 3.5 mm and/or a major structural defect were observed in 92 (26.4%) fetuses. A chromosomal abnormality was found in 17 (18.5%; 95%CI 10.55-26.41) of these pregnancies, including 1 (1.1%) case of trisomy 21 and 16 (17.4%) fetuses with abnormalities different from common trisomies. The respective incidence in the 256 cases with a low-risk cfDNA test result and no ultrasound anomalies was 2.3% (95% CI 0.49-4.20; n = 6). Conclusions: In fetuses with first trimester ultrasound anomalies and a low-risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies.

Original languageEnglish
JournalPrenatal Diagnosis
DOIs
Publication statusAccepted/In press - 2020

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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